PLS3 (plastin 3) - Rat Genome Database

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Gene: PLS3 (plastin 3) Homo sapiens
Analyze
Symbol: PLS3
Name: plastin 3
RGD ID: 731591
HGNC Page HGNC
Description: Predicted to have actin filament binding activity. Predicted to be a structural constituent of presynaptic actin cytoskeleton. Involved in bone development. Localizes to cytosol and plasma membrane. Implicated in osteoporosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMND18; DKFZp686G1497; plastin 3 (t-isoform); plastin-3; T fimbrin; T plastin; T-plastin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX115,561,174 - 115,650,861 (+)EnsemblGRCh38hg38GRCh38
GRCh38X115,561,174 - 115,650,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X114,795,501 - 114,885,181 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X114,701,765 - 114,791,246 (+)NCBINCBI36hg18NCBI36
Build 34X114,618,488 - 114,707,970NCBI
CeleraX115,230,242 - 115,320,243 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX104,379,340 - 104,468,198 (+)NCBIHuRef
CHM1_1X114,706,001 - 114,796,082 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
beauvericin  (EXP)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
D-glucose  (EXP)
DDT  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
enniatin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fonofos  (EXP)
glafenine  (ISO)
glucose  (EXP)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
methapyrilene  (EXP)
methylmercury(1+)  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel sulfate  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2378651   PMID:3211125   PMID:4053036   PMID:7806577   PMID:8125298   PMID:8428952   PMID:8889548   PMID:9302997   PMID:12119179   PMID:12477932   PMID:14567899   PMID:14612505  
PMID:14756805   PMID:15342556   PMID:15489334   PMID:15741236   PMID:16009940   PMID:16115810   PMID:16142308   PMID:17353931   PMID:17676665   PMID:18440926   PMID:18569641   PMID:19135240  
PMID:20085233   PMID:20360068   PMID:20937953   PMID:21145461   PMID:21832049   PMID:21873635   PMID:21907836   PMID:22495182   PMID:22627769   PMID:22863883   PMID:22939629   PMID:23125841  
PMID:23150633   PMID:23263861   PMID:23378342   PMID:23429988   PMID:23549633   PMID:24088043   PMID:24170770   PMID:24172247   PMID:24217791   PMID:24271012   PMID:24284364   PMID:24797263  
PMID:24999758   PMID:25209159   PMID:25226517   PMID:25662211   PMID:25665578   PMID:25737280   PMID:25880010   PMID:25921289   PMID:26048141   PMID:26114395   PMID:26134627   PMID:26146096  
PMID:26209609   PMID:26344197   PMID:26389662   PMID:26485645   PMID:26496610   PMID:26573968   PMID:27173435   PMID:27260405   PMID:27279027   PMID:27499521   PMID:27732335   PMID:28218996  
PMID:28379384   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28675297   PMID:28694070   PMID:28718761   PMID:28748388   PMID:28777485   PMID:29089450   PMID:29128334  
PMID:29229926   PMID:29378950   PMID:29449217   PMID:29568061   PMID:29736964   PMID:29845934   PMID:29987050   PMID:30204862   PMID:30425250   PMID:30829071   PMID:30833792   PMID:30837644  
PMID:30890647   PMID:30948266   PMID:30979931   PMID:31046837   PMID:31091453   PMID:31180492   PMID:31280863   PMID:31293151   PMID:31300519   PMID:31347706   PMID:31452512   PMID:31519766  
PMID:31527615   PMID:31586073   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32239705   PMID:32780723  


Genomics

Comparative Map Data
PLS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX115,561,174 - 115,650,861 (+)EnsemblGRCh38hg38GRCh38
GRCh38X115,561,174 - 115,650,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X114,795,501 - 114,885,181 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X114,701,765 - 114,791,246 (+)NCBINCBI36hg18NCBI36
Build 34X114,618,488 - 114,707,970NCBI
CeleraX115,230,242 - 115,320,243 (+)NCBI
Cytogenetic MapXq23NCBI
HuRefX104,379,340 - 104,468,198 (+)NCBIHuRef
CHM1_1X114,706,001 - 114,796,082 (+)NCBICHM1_1
Pls3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,829,259 - 74,918,788 (-)NCBIGRCm39mm39
GRCm39 EnsemblX74,829,260 - 74,918,788 (-)Ensembl
GRCm38X75,785,653 - 75,875,182 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,785,654 - 75,875,182 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X73,030,993 - 73,120,509 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X72,038,383 - 72,127,258 (-)NCBImm8
CeleraX67,188,917 - 67,297,722 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
Pls3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X111,589,193 - 111,683,908 (+)NCBI
Rnor_6.0 EnsemblX119,030,419 - 119,124,250 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X119,030,311 - 119,124,268 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X119,173,230 - 119,266,240 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X29,868,937 - 29,965,118 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X29,923,513 - 29,982,843 (-)NCBI
CeleraX110,881,127 - 110,971,056 (+)NCBICelera
Cytogenetic MapXq34NCBI
Pls3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955490122,328 - 221,388 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955490125,913 - 221,152 (-)NCBIChiLan1.0ChiLan1.0
PLS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X115,160,032 - 115,250,144 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX115,160,032 - 115,250,144 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X104,656,110 - 104,745,702 (+)NCBIMhudiblu_PPA_v0panPan3
PLS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X88,308,817 - 88,399,682 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX88,308,888 - 88,398,810 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX74,429,089 - 74,519,776 (+)NCBI
ROS_Cfam_1.0X90,023,698 - 90,114,659 (+)NCBI
UMICH_Zoey_3.1X87,466,392 - 87,557,283 (+)NCBI
UNSW_CanFamBas_1.0X89,141,351 - 89,232,259 (+)NCBI
UU_Cfam_GSD_1.0X88,976,701 - 89,067,622 (+)NCBI
Pls3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X87,322,781 - 87,411,736 (+)NCBI
SpeTri2.0NW_004936499246,042 - 335,440 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX94,885,118 - 94,971,664 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X94,885,098 - 94,971,664 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X109,452,808 - 109,539,961 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLS3
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Pls3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624940120,073 - 216,522 (-)NCBI

Position Markers
AL008905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,867,467 - 114,867,650UniSTSGRCh37
Build 36X114,773,723 - 114,773,906RGDNCBI36
CeleraX115,302,533 - 115,302,716RGD
Cytogenetic MapXq23UniSTS
HuRefX104,450,331 - 104,450,513UniSTS
AL032606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,852,452 - 114,852,537UniSTSGRCh37
Build 36X114,758,708 - 114,758,793RGDNCBI36
CeleraX115,287,518 - 115,287,603RGD
Cytogenetic MapXq23UniSTS
HuRefX104,436,274 - 104,436,359UniSTS
RH103779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,860,912 - 114,861,071UniSTSGRCh37
Build 36X114,767,168 - 114,767,327RGDNCBI36
CeleraX115,295,978 - 115,296,137RGD
Cytogenetic MapXq23UniSTS
HuRefX104,444,558 - 104,444,717UniSTS
GeneMap99-GB4 RH MapX291.13UniSTS
RH122203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,802,627 - 114,802,950UniSTSGRCh37
Build 36X114,708,883 - 114,709,206RGDNCBI36
CeleraX115,237,692 - 115,238,015RGD
Cytogenetic MapXq23UniSTS
HuRefX104,386,790 - 104,387,113UniSTS
DXS7571E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,851,592 - 114,851,663UniSTSGRCh37
Build 36X114,757,848 - 114,757,919RGDNCBI36
CeleraX115,286,658 - 115,286,729RGD
Cytogenetic MapXq23UniSTS
HuRefX104,435,414 - 104,435,485UniSTS
AL031573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,807,823 - 114,808,022UniSTSGRCh37
Build 36X114,714,079 - 114,714,278RGDNCBI36
CeleraX115,242,888 - 115,243,087RGD
Cytogenetic MapXq23UniSTS
STS-AA004696  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,815,003 - 114,815,135UniSTSGRCh37
Build 36X114,721,259 - 114,721,391RGDNCBI36
CeleraX115,250,068 - 115,250,200RGD
Cytogenetic MapXq23UniSTS
HuRefX104,398,763 - 104,398,895UniSTS
GeneMap99-GB4 RH MapX288.4UniSTS
AL008933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X114,866,017 - 114,866,109UniSTSGRCh37
Build 36X114,772,273 - 114,772,365RGDNCBI36
CeleraX115,301,083 - 115,301,175RGD
Cytogenetic MapXq23UniSTS
HuRefX104,448,881 - 104,448,973UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR148Bhsa-miR-148b-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:4675
Count of miRNA genes:1258
Interacting mature miRNAs:1602
Transcripts:ENST00000289290, ENST00000355899, ENST00000420625, ENST00000466150, ENST00000473026, ENST00000481823, ENST00000489283, ENST00000497870, ENST00000537301, ENST00000539310, ENST00000543070
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 95 15 1 15
Medium 2356 2084 1612 618 730 462 4131 1934 3083 408 1417 1591 171 1204 2564 4
Low 78 249 110 5 430 2 211 257 647 11 41 12 4 1 209 2 2
Below cutoff 3 557 4 1 675 1 4 2 1 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA704125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP214207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC320695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC357886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC416446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289290   ⟹   ENSP00000289290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,561,228 - 115,649,758 (+)Ensembl
RefSeq Acc Id: ENST00000355899   ⟹   ENSP00000348163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,561,174 - 115,650,861 (+)Ensembl
RefSeq Acc Id: ENST00000420625   ⟹   ENSP00000398945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,622,060 - 115,650,857 (+)Ensembl
RefSeq Acc Id: ENST00000466150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,640,304 - 115,646,157 (+)Ensembl
RefSeq Acc Id: ENST00000473026   ⟹   ENSP00000475900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,610,243 - 115,634,081 (+)Ensembl
RefSeq Acc Id: ENST00000481823   ⟹   ENSP00000419051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,593,553 - 115,650,056 (+)Ensembl
RefSeq Acc Id: ENST00000489283   ⟹   ENSP00000420458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,561,174 - 115,629,916 (+)Ensembl
RefSeq Acc Id: ENST00000497870   ⟹   ENSP00000417728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,639,718 - 115,646,431 (+)Ensembl
RefSeq Acc Id: ENST00000539310   ⟹   ENSP00000445339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,593,608 - 115,650,672 (+)Ensembl
RefSeq Acc Id: ENST00000626746   ⟹   ENSP00000487343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX115,561,182 - 115,614,208 (+)Ensembl
RefSeq Acc Id: NM_001136025   ⟹   NP_001129497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,593,551 - 115,650,861 (+)NCBI
GRCh37X114,795,177 - 114,885,181 (+)ENTREZGENE
HuRefX104,379,340 - 104,468,198 (+)ENTREZGENE
CHM1_1X114,738,699 - 114,796,082 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172335   ⟹   NP_001165806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,593,551 - 115,650,861 (+)NCBI
GRCh37X114,795,177 - 114,885,181 (+)ENTREZGENE
HuRefX104,379,340 - 104,468,198 (+)ENTREZGENE
CHM1_1X114,738,699 - 114,796,082 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282337   ⟹   NP_001269266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,561,174 - 115,650,861 (+)NCBI
HuRefX104,379,340 - 104,468,198 (+)NCBI
CHM1_1X114,706,001 - 114,796,082 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282338   ⟹   NP_001269267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,593,551 - 115,650,861 (+)NCBI
HuRefX104,379,340 - 104,468,198 (+)NCBI
CHM1_1X114,738,699 - 114,796,082 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005032   ⟹   NP_005023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,561,174 - 115,650,861 (+)NCBI
GRCh37X114,795,177 - 114,885,181 (+)ENTREZGENE
Build 36X114,701,765 - 114,791,246 (+)NCBI Archive
HuRefX104,379,340 - 104,468,198 (+)ENTREZGENE
CHM1_1X114,706,001 - 114,796,082 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005023   ⟸   NM_005032
- Peptide Label: isoform 1
- UniProtKB: P13797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129497   ⟸   NM_001136025
- Peptide Label: isoform 1
- UniProtKB: P13797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165806   ⟸   NM_001172335
- Peptide Label: isoform 2
- UniProtKB: P13797 (UniProtKB/Swiss-Prot),   B4DPW9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269266   ⟸   NM_001282337
- Peptide Label: isoform 3
- UniProtKB: P13797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269267   ⟸   NM_001282338
- Peptide Label: isoform 4
- UniProtKB: P13797 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000487343   ⟸   ENST00000626746
RefSeq Acc Id: ENSP00000419051   ⟸   ENST00000481823
RefSeq Acc Id: ENSP00000417728   ⟸   ENST00000497870
RefSeq Acc Id: ENSP00000289290   ⟸   ENST00000289290
RefSeq Acc Id: ENSP00000445339   ⟸   ENST00000539310
RefSeq Acc Id: ENSP00000475900   ⟸   ENST00000473026
RefSeq Acc Id: ENSP00000348163   ⟸   ENST00000355899
RefSeq Acc Id: ENSP00000398945   ⟸   ENST00000420625
RefSeq Acc Id: ENSP00000420458   ⟸   ENST00000489283
Protein Domains
Calponin-homology (CH)   EF-hand

Promoters
RGD ID:6809134
Promoter ID:HG_KWN:67819
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000355899,   NM_005032,   OTTHUMT00000057977,   UC010NQF.1,   UC010NQG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X114,701,589 - 114,702,089 (+)MPROMDB
RGD ID:6851396
Promoter ID:EP73498
Type:initiation region
Name:HS_PLS3
Description:Plastin 3 (T isoform).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X114,701,777 - 114,701,837EPD
RGD ID:13627910
Promoter ID:EPDNEW_H29230
Type:initiation region
Name:PLS3_1
Description:plastin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29231  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,561,196 - 115,561,256EPDNEW
RGD ID:13627912
Promoter ID:EPDNEW_H29231
Type:initiation region
Name:PLS3_2
Description:plastin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29230  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X115,593,553 - 115,593,613EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter) single nucleotide variant Bone mineral density quantitative trait locus 18 [RCV000074380] ChrX:115646495 [GRCh38]
ChrX:114880815 [GRCh37]
ChrX:Xq23
association
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005032.7(PLS3):c.235del (p.Tyr79fs) deletion Bone mineral density quantitative trait locus 18 [RCV000074379] ChrX:115622405 [GRCh38]
ChrX:114856717 [GRCh37]
ChrX:Xq23
association
NM_005032.7(PLS3):c.321T>A (p.Gly107=) single nucleotide variant Bone mineral density quantitative trait locus 18 [RCV000074381]|not specified [RCV000607293] ChrX:115629281 [GRCh38]
ChrX:114863593 [GRCh37]
ChrX:Xq23
association|benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq23(chrX:112920714-116408703)x0 copy number loss See cases [RCV000139029] ChrX:112920714..116408703 [GRCh38]
ChrX:112163942..115539863 [GRCh37]
ChrX:112050598..115453891 [NCBI36]
ChrX:Xq23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del deletion Bone mineral density quantitative trait locus 18 [RCV000191154] ChrX:113097589..114931342 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005032.7(PLS3):c.1377+17C>T single nucleotide variant not specified [RCV000604535] ChrX:115646203 [GRCh38]
ChrX:114880523 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.367+11T>C single nucleotide variant not specified [RCV000600145] ChrX:115629338 [GRCh38]
ChrX:114863650 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_005032.7(PLS3):c.647C>T (p.Ala216Val) single nucleotide variant not provided [RCV001269828] ChrX:115634945 [GRCh38]
ChrX:114869257 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_005032.7(PLS3):c.-8-20C>T single nucleotide variant not specified [RCV000605731] ChrX:115610223 [GRCh38]
ChrX:114844535 [GRCh37]
ChrX:Xq23
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005032.7(PLS3):c.256del (p.Ser86fs) deletion Bone mineral density quantitative trait locus 18 [RCV000496987] ChrX:115629212 [GRCh38]
ChrX:114863524 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 copy number gain See cases [RCV000510739] ChrX:111149921..117993284 [GRCh37]
ChrX:Xq23-24
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_005032.7(PLS3):c.1377+4G>A single nucleotide variant not specified [RCV000603046] ChrX:115646190 [GRCh38]
ChrX:114880510 [GRCh37]
ChrX:Xq23
likely benign
NM_005032.7(PLS3):c.1294T>C (p.Leu432=) single nucleotide variant not specified [RCV000615982] ChrX:115646103 [GRCh38]
ChrX:114880423 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.1242T>C (p.Pro414=) single nucleotide variant not specified [RCV000610115] ChrX:115645079 [GRCh38]
ChrX:114879399 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq23(chrX:114788247-114890055)x2 copy number gain not provided [RCV000753721] ChrX:114788247..114890055 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_005032.7(PLS3):c.1809C>T (p.Leu603=) single nucleotide variant not provided [RCV000983508] ChrX:115649477 [GRCh38]
ChrX:114883797 [GRCh37]
ChrX:Xq23
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq23(chrX:113097589-114931342) copy number loss Bone mineral density quantitative trait locus 18 [RCV000767804] ChrX:113097589..114931342 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_005032.7(PLS3):c.1476C>T (p.Thr492=) single nucleotide variant not provided [RCV000928066] ChrX:115646500 [GRCh38]
ChrX:114880820 [GRCh37]
ChrX:Xq23
likely benign
NM_005032.7(PLS3):c.1263-319C>A single nucleotide variant not provided [RCV000827726] ChrX:115645753 [GRCh38]
ChrX:114880073 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.73+621C>A single nucleotide variant not provided [RCV000836173] ChrX:115610944 [GRCh38]
ChrX:114845256 [GRCh37]
ChrX:Xq23
likely benign
NM_005032.7(PLS3):c.1263-309del deletion not provided [RCV000830733] ChrX:115645758 [GRCh38]
ChrX:114880078 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.237+182C>T single nucleotide variant not provided [RCV000830730] ChrX:115622591 [GRCh38]
ChrX:114856903 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.1263-321dup duplication not provided [RCV000827725] ChrX:115645748..115645749 [GRCh38]
ChrX:114880068..114880069 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.748+130G>A single nucleotide variant not provided [RCV000827836] ChrX:115635176 [GRCh38]
ChrX:114869488 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.892-215C>T single nucleotide variant not provided [RCV000834261] ChrX:115640193 [GRCh38]
ChrX:114874505 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.1511+82T>C single nucleotide variant not provided [RCV000834262] ChrX:115646617 [GRCh38]
ChrX:114880937 [GRCh37]
ChrX:Xq23
benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_005032.7(PLS3):c.514del (p.Leu172fs) deletion Bone mineral density quantitative trait locus 18 [RCV000990931] ChrX:115634012 [GRCh38]
ChrX:114868324 [GRCh37]
ChrX:Xq23
likely pathogenic
NM_005032.7(PLS3):c.1380A>G (p.Leu460=) single nucleotide variant not provided [RCV000931812] ChrX:115646404 [GRCh38]
ChrX:114880724 [GRCh37]
ChrX:Xq23
benign
NM_005032.7(PLS3):c.216_219del (p.Ser73fs) deletion Bone mineral density quantitative trait locus 18 [RCV001254100] ChrX:115622387..115622390 [GRCh38]
ChrX:114856699..114856702 [GRCh37]
ChrX:Xq23
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_005032.7(PLS3):c.75dup (p.Leu26fs) duplication not provided [RCV001269504] ChrX:115622246..115622247 [GRCh38]
ChrX:114856558..114856559 [GRCh37]
ChrX:Xq23
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9091 AgrOrtholog
COSMIC PLS3 COSMIC
Ensembl Genes ENSG00000102024 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289290 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348163 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398945 UniProtKB/TrEMBL
  ENSP00000417728 UniProtKB/TrEMBL
  ENSP00000419051 UniProtKB/TrEMBL
  ENSP00000420458 UniProtKB/TrEMBL
  ENSP00000445339 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475900 UniProtKB/TrEMBL
  ENSP00000487343 UniProtKB/TrEMBL
Ensembl Transcript ENST00000289290 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355899 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420625 UniProtKB/TrEMBL
  ENST00000473026 UniProtKB/TrEMBL
  ENST00000481823 UniProtKB/TrEMBL
  ENST00000489283 UniProtKB/TrEMBL
  ENST00000497870 UniProtKB/TrEMBL
  ENST00000539310 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000626746 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102024 GTEx
HGNC ID HGNC:9091 ENTREZGENE
Human Proteome Map PLS3 Human Proteome Map
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fimbrin/Plastin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLS2/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5358 UniProtKB/Swiss-Prot
NCBI Gene 5358 ENTREZGENE
OMIM 300131 OMIM
  300910 OMIM
PANTHER PTHR19961 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19961:SF32 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33418 PharmGKB
PROSITE ACTININ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MSQ0_HUMAN UniProtKB/TrEMBL
  A7E2S2_HUMAN UniProtKB/TrEMBL
  B4DPW9 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2Z9_HUMAN UniProtKB/TrEMBL
  H7C4N2_HUMAN UniProtKB/TrEMBL
  P13797 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KQI3_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K579 UniProtKB/Swiss-Prot
  B1AQ09 UniProtKB/Swiss-Prot
  B4DGB4 UniProtKB/Swiss-Prot
  B7Z6M1 UniProtKB/Swiss-Prot
  Q86YI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 PLS3  plastin 3  PLS3  plastin 3 (T isoform)  Symbol and/or name change 5135510 APPROVED